ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1304dup (p.Ala436fs)

dbSNP: rs1588449569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008241 SCV001168007 likely pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing The c.1304dupA variant in the OPTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1304dupA variant causes a frameshift starting with codon Alanine 436, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ala436GlyfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1304dupA variant is not observed in large population cohorts (Lek et al., 2016).
Labcorp Genetics (formerly Invitae), Labcorp RCV002549284 SCV003481300 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 817138). This sequence change creates a premature translational stop signal (p.Ala436Glyfs*11) in the OPTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPTN-related conditions.

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